Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.I146V
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PSEN2

NM_000447.3:p.I146V

Associated Papers

The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Jiao B et al.

Npj Genomic Medicine, 2021

ALS Genes in the Genomic Era and their Implications for FTD.

Nguyen HP et al.

Trends in Genetics : Tig, 2018

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.

Giannoccaro MP et al.

Journal of Neurology, 2017

Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).

Lattante S et al.

Trends in Genetics : Tig, 2015

Co-occurrence of the C9ORF72 expansion and a novel GRN mutation in a family with alternative expression of frontotemporal dementia and amyotrophic lateral sclerosis.

Testi S et al.

Journal of Alzheimer's Disease : Jad, 2015

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

van Blitterswijk M et al.

Current Opinion in Neurology, 2012

Screening for C9ORF72 repeat expansion in FTLD.

Ferrari R et al.

Neurobiology of Aging, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."